LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000404)
Patient ID AKU_TR2_0257
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Austria
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00174
Exon 07
DNA change c.454G>A
RNA change r.(?)
Protein p.(Gly152Arg)
Original description G152R
Links -
Variant remarks missense
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0257b
Type substitution
Re-site ?
Frequency -
Template DNA
Technique SEQ
Location exon

2 entries in HGD

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Original description Descending
Ascending
Links Descending
Ascending
Variant remarks Descending
Ascending
Predicted Mutation Effect** Descending
Ascending
Reference Descending
Ascending
Mutation HOT-SPOT Descending
Ascending
Allele code Descending
Ascending
Type Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Location Descending
Ascending
+/+ Parent #1 AKU_00174 07 c.454G>A r.(?) p.(Gly152Arg) G152R - missense - Ascher et al. (2019) CCC triplet AKU_TR2_0257b substitution ? - DNA SEQ exon
+/+ Parent #2 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0257a substitution (-)BslI - DNA SEQ exon